• Molecules and Cells
• /
• 제28권1호
• /
• pp.43-48
• /
• 2009

By screening C. elegans mutants for severe defects in germline proliferation, we isolated a new loss-of-function allele of cdc-25.1, bn115. bn115 and another previously identified loss-of-function allele nr2036 do not exhibit noticeable cell division defects in the somatic tissues but have reduced numbers of germ cells and are sterile, indicating that cdc-25.1 functions predominantly in the germ line during postembryonic development, and that cdc-25.1 activity is probably not required in somatic lineages during larval development. We analyzed cell division of germ cells and somatic tissues in bn115 homozygotes with germline-specific anti-PGL-1 immunofluorescence and GFP transgenes that express in intestinal cells, in distal tip cells, and in gonadal sheath cells, respectively. We also analyzed the expression pattern of cdc-25.1 with conventional and quantitative RT-PCR. In the presence of three other family members of cdc-25.1 in C. elegans, defects are observed only in the germ line but not in the somatic tissues in cdc-25.1 single mutants, and cdc-25.1 is expressed predominantly, if not exclusively, in the germ line during postembryonic stages. Our findings indicate that the function of cdc-25.1 is unique in the germ line but likely redundant with other members in the soma.

• 한국작물학회:학술대회논문집
• /
• 한국작물학회 2017년도 9th Asian Crop Science Association conference
• /
• pp.12-12
• /
• 2017

Genetic improvement in potato can be carried out through several approaches, as sexual crosses, somatic hybridization, mutation and genetic engineering. Although the approach is different, but the goal is the same, to get a superior cultivar. Mutation and genetic engineering are very interesting methods for genetic improvement of potato plants. Mutation by gamma-ray irradiation have been performed to get some new potato cultivars which are more resistant to disease and have higher productivity. We have carried out a mutation of some potato cultivars and obtained some excellent clones to be potentially released as new superior cultivars. By the mutation method, we have released one potato cultivar for the French fries industry, and we registered one cultivar of potato for chips, and two cultivar for vegetable potatoes. Actually we are doing multi-location trial for three clones to be released as new cultivars. Through genetic engineering, several genes have been introduced into the potato plant, and we obtained several clones of transgenic potato plants. Transgenic potato plants containing FBPase gene encoding for fructose bisphosphatase, have a higher rate of photosynthesis and higher tuber productivity than non-transgenic plants. This result suggests that FBPase plays an important role in increasing the rate of photosynthesis and potato tuber productivity. Some transgenic potatoes containing the Hd3a gene are currently being evaluated for their productivity. Over expression of the Hd3a gene is expected to increase tuber productivity and induce flowering in potatoes. Transgenic potato plants containing MmPMA gene encoding for plasma membrane ATPse are more tolerant to low pH than non-transgenic plants, indicating that plasma membrane ATPase plays an important role in the potato plant tolerance to low pH stress. Transgenic potato plants containing c-lysozyme genes, are highly tolerant of bacterial wilt diseases caused by Ralstonia solanacearum and bacterial soft rot disease caused by Pectobacterium carotovorum. Expression of c-lyzozyme gene plays an important role in increasing the resistance of potato plants to bacterial diseases.

• Bulletin of the Korean Chemical Society
• /
• 제31권12호
• /
• pp.3525-3529
• /
• 2010

Tyrosine kinase inhibitors (TKIs) are currently used in the treatment of patients with advanced lung cancer. Recent studies on non-small cell lung cancer have shown that some patients carry somatic mutations in the epidermal growth factor receptor (EGFR) gene. Such mutations correlate with the effectiveness of certain TKIs. To detect a small amount of mutant EGFR among an abundance of wild-type EGFR, we have developed a highly sensitive and simple method using PNA-mediated real-time PCR clamping. The PNA-mediated real-time PCR clamping enables detection of EGFR mutants down to approximately 1% mutant -to- wild type. The total assay time was short as it required only 2.0 hr. Thus, PNA-mediated real-time PCR clamping can easily be applied to clinical samples for identification of DNA carrying EGFR mutations and also appear to be the best assay to detect somatic mutations.

• Journal of Korean Neurosurgical Society
• /
• 제62권3호
• /
• pp.272-287
• /
• 2019

The mechanistic target of rapamycin (mTOR) pathway coordinates the metabolic activity of eukaryotic cells through environmental signals, including nutrients, energy, growth factors, and oxygen. In the nervous system, the mTOR pathway regulates fundamental biological processes associated with neural development and neurodegeneration. Intriguingly, genes that constitute the mTOR pathway have been found to be germline and somatic mutation from patients with various epileptic disorders. Hyperactivation of the mTOR pathway due to said mutations has garnered increasing attention as culprits of these conditions : somatic mutations, in particular, in epileptic foci have recently been identified as a major genetic cause of intractable focal epilepsy, such as focal cortical dysplasia. Meanwhile, epilepsy models with aberrant activation of the mTOR pathway have helped elucidate the role of the mTOR pathway in epileptogenesis, and evidence from epilepsy models of human mutations recapitulating the features of epileptic patients has indicated that mTOR inhibitors may be of use in treating epilepsy associated with mutations in mTOR pathway genes. Here, we review recent advances in the molecular and genetic understanding of mTOR signaling in epileptic disorders. In particular, we focus on the development of and limitations to therapies targeting the mTOR pathway to treat epileptic seizures. We also discuss future perspectives on mTOR inhibition therapies and special diagnostic methods for intractable epilepsies caused by brain somatic mutations.

• 한국작물학회지
• /
• 제41권3호
• /
• pp.348-353
• /
• 1996

1. 돌연변이처리후 실내에서 처리된 종자의 발아율, 제 1 엽 및 뿌리의 생장율을 보면 gamma ray나 화학제 처리된 Dema M$_1$, 유묘의 경우 생존율이 l~49%정도 감소하였고 Grosso의 경우는 그 감소의 폭이 Dema보다 적어 두 품종간의 돌연변이제에 대한반응의 차가 컸으며 같은 처리농도의 화학돌연변이제를 처리할 경우 두번에 나누어 중간의 휴지기를 두고 처리하는 것이 한 번에 처리하는 것보다 식물체의 생장 저해정도가 덜하였다. 2. 포장 M$_1$식물체의 간장의 감소율을 보면 화학약제의 경우 8.5~38.5%의 범위로 간장이 줄어들었으며 특히 1.5 mM의 MNH 처리시는 두 품종 모두 파종된 식물체가 고사하였고 0.75~l.0mM의 MNH처리시 15~38%심하였다. 그러나 이중처리할 때는 1.0~l.5mM이상의 고농도로 처리하여도 간장의 생장 감소율은 단일처리보다 상대적으로 덜 하였으며 이는 두 품종 모두 비슷한 경향이었다. 3. Dema에서는 gamma ray 180Gy처리시 간장의 감소가 28% 정도로 가장 심하였고 Grosso에서는 150Gy에서 13%로 가장 심한 경향이었다. 4. M$_2$식물체의 엽록소 돌연변이 발생율을 보면 화학약제나 방사선 처리 모두 처리강도가 높을수록 albino, xantha등의 엽록소 돌연변이체가 많이 나타났으며 약제의 이중 처리시 엽록소 돌연변이의 출현률이 다른 처리보다 높았다.

• 대한두경부종양학회지
• /
• 제18권1호
• /
• pp.3-10
• /
• 2002

Background: The molecular pathogenesis of hereditary medullary thyroid carcinoma is well known to be associated with germ-line mutation in the RET proto-oncogene and sporadic medullary thyroid carcinoma has been shown to carry somatic RET mutation especially in exon 13 and 16. The aim of this study is to evaluate the genetic background in the pathogenesis of the sporadic medullary thyroid carcinoma which shows extremely high incidence in Korea. Materials and Methods: Direct DNA sequencing for RET exon 13 and 16, as well as immunohistochemistrical assay for a monoclonal RET antibody were performed from 20 cases of archival tissues of medullary thyroid carcinoma. Results: Monoclonal RET antibody with C-terminal epitope showed comparatively stronger expression in tumor cells than in normal tissues and immunoreactive area in the tumor was $66.0{\pm}40.1%$. Direct sequencing of RET exon 13 revealed 4 cases of mis-sense mutations in Codon 778, Codon 767, and both in Codon 768 and 778. One case showed a silent mutation (ACG-ACT) in RET exon 16 (Codon 926). Conclusions: The strong RET immunoreactivity of medullary thyroid carcinoma may suggest that there could be a genetic alteration in oncoprotein level. RET proto-oncogene mutation may be involved in the evolutional process of medullary thyroid carcinoma in the aspect of molecular basis.

• Asian Pacific Journal of Cancer Prevention
• /
• 제15권24호
• /
• pp.10627-10630
• /
• 2015

Background: Epidermal growth factor receptor (EGFR) mutations play a vital role in the prognosis of patients with lung adenocarcinoma. Such somatic mutations are more common in women who are non-smokers with adenocarcinoma and are of Asian origin. However, to our knowledge, there are few studies that have focused on men. Materials and Methods: One hundred and eighty-four consecutive patients (90 men and 94 women) of resected lung adenocarcinoma were studied retrospectively. Results: EGFR mutations were positive in 48.9% and negative (wild type) in 51.1%. Overall mutation was significant in women (66.0% vs. 32.2%) compared with men (p<0.001). For overall patients, EGFR mutation status was associated with gender, pStage, pT status, lepidic dominant histologic subtype, pure or mixed ground-glass nodule type on computed tomography and smoking status. However, in men, EGFR mutation status was only associated with lepidic dominant histologic subtype and not the other variables. Interestingly, the Brinkman index of men with mutant EGFR also did not differ from that for the wild type ($680.0{\pm}619.3$ vs. $813.1{\pm}552.1$ p=0.1077). Conclusions: The clinical characteristics of men with lung adenocarcinoma related to EGFR mutation are not always similar to that of overall patients. Especially we failed to find the relationship between EGFR mutations and smoking status in men.

• Journal of Genetic Medicine
• /
• 제14권2호
• /
• pp.56-61
• /
• 2017

Purpose: Neurofibromatosis type 2 (NF2) is characterized by multiple tumors, including vestibular schwannoma (VS) and others affecting cranial and peripheral nerves. NF2 is caused by mutation of the NF2 gene. The mutation spectrum of NF2 has not been characterized in Korean patients. In the current study, the clinical and genetic characteristics of Korean NF2 patients were analyzed. Materials and Methods: Twenty-five unrelated Korean families were enrolled according to the Manchester criteria. Genetic analysis was performed by direct sequencing and multiplex ligation-dependent probe amplification methods using genomic DNA from peripheral lymphocytes or tumor tissues. Results: All patients had bilateral/unilateral VS and/or other cranial and peripheral nerve tumors. Two patients were familial cases and the other 24 patients were sporadic. Germline NF2 mutations were detected in peripheral lymphocytes from both familial cases, but only in 26.1% of the 23 sporadic families. Somatic mutations were also found in tumor tissues from two of the sporadic families. These somatic mutations were not found in peripheral lymphocytes. A total of 10 different mutations including 2 novel mutations were found in 40.0% of studied families. Five mutations (50.0%) were located in exon 6 of NF2, the FERM domain coding region. Conclusion: Family history was an important factor in identifying germline NF2 mutations. Further study is required to investigate whether exon 6 is a mutation hotspot in Korean NF2 patients and its correlation to phenotypic severity.

• Genomics & Informatics
• /
• 제10권1호
• /
• pp.33-39
• /
• 2012

High-throughput genomic technologies (HGTs), including next-generation DNA sequencing (NGS), microarray, and serial analysis of gene expression (SAGE), have become effective experimental tools for cancer genomics to identify cancer-associated somatic genomic alterations and genes. The main hurdle in cancer genomics is to identify the real causative mutations or genes out of many candidates from an HGT-based cancer genomic analysis. One useful approach is to refer to known cancer genes and associated information. The list of known cancer genes can be used to determine candidates of cancer driver mutations, while cancer gene-related information, including gene expression, protein-protein interaction, and pathways, can be useful for scoring novel candidates. Some cancer gene or mutation databases exist for this purpose, but few specialized tools exist for an automated analysis of a long gene list from an HGT-based cancer genomic analysis. This report presents a new web-accessible bioinformatic tool, called CaGe, a cancer genome annotation system for the assessment of candidates of cancer genes from HGT-based cancer genomics. The tool provides users with information on cancer-related genes, mutations, pathways, and associated annotations through annotation and browsing functions. With this tool, researchers can classify their candidate genes from cancer genome studies into either previously reported or novel categories of cancer genes and gain insight into underlying carcinogenic mechanisms through a pathway analysis. We show the usefulness of CaGe by assessing its performance in annotating somatic mutations from a published small cell lung cancer study.

• 한국정보통신학회논문지
• /
• 제17권12호
• /
• pp.3009-3015
• /
• 2013

차세대 시퀀싱(NGS)은 암에서 전사체 싱글 뉴클레오티드 변형 발견과 모든 지놈 발견을 가능하게 한다. 어느 한 위치에서 배열된 다수의 짧은 리드 시퀀스로부터 개인의 유전자형을 결정하는 가장 기초적인 방법이다. Byesian 알고리즘은 사후 유전자형 확률을 사용하여 파라미터 추정한다. 또 다른 방법인 EM 알고리즘은 최대 가능성 추정 방법을 사용해서 관측된 데이터에서 파라미터를 추정한다. 본 논문에서는 새로운 유전자형 조사 시스템을 제안하고 시퀀싱 에러 비율과 체세포 돌연 변이 상태 그리고 유전자형 확률의 사후 추정치에 관한 샘플 크기(S = 50, 100, 500)의 영향을 비교 분석하였다. 그 결과 작은 샘플 크기 50에서도 Byesian 알고리즘을 사용하여 추정한 파라미터가 EM 알고리즘 보다 더 정확하게 실제 파라미터에 근접하였다.